rs1057518853, RPS6KA3

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Coffin-Lowry syndrome
CUI: C0265252
Disease: Coffin-Lowry syndrome
25 0.882 0.120 X 20161641 splice donor variant -/A delins 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.882 0.120 X 20161641 splice donor variant -/A delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 X 20161641 splice donor variant -/A delins 0.700 0